chr15:61856408:G>A Detail (hg38) (VPS13C)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr15:62,148,607-62,148,607 View the variant detail on this assembly version.
hg38	chr15:61,856,408-61,856,408

HGVS

VPS13C

Type	Transcript	Protein
RefSeq	NM_017684.4:c.10825C>T	NP_060154.3:p.Arg3609Ter
Ensemble	ENST00000249837.7:c.10825C>T	ENST00000249837.7:p.Arg3609Ter
	ENST00000644861.2:c.10954C>T	ENST00000644861.2:p.Arg3652Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

Links

VPS13C

Type	Database	ID	Link
Gene	MIM	608879	OMIM
	HGNC	23594	HGNC
	Ensembl	ENSG00000129003	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv391844467	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2019-10-28	criteria provided, single submitter	frontotemporal dementia,Primary degenerative dementia of the Alzheimer type, presenile onset	unknown	Detail
Uncertain significance	2019-10-28	criteria provided, single submitter	frontotemporal dementia,Primary degenerative dementia of the Alzheimer type, presenile onset	unknown	Detail
Pathogenic Likely pathogenic	2024-01-02	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2023-12-21	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) AND multiple conditions	ClinVar	Detail
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) AND multiple conditions	ClinVar	Detail
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) AND not provided	ClinVar	Detail
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) AND not specified	ClinVar	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs138846118 dbSNP
Genome: hg38
Position: chr15:61,856,408-61,856,408
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8582
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120740
Allele Counts in All Race (ExAC): 21
Heterozygous Counts in All Race (ExAC): 21
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.739274474076528E-4

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